Osteopoikilosis
Disclosures
- updated 9 Jun 2023:
Nothing to disclose
Updates to Article Attributes
Body
was changed:
Osteopoikilosis is a sclerosing bony dysplasia characterised by multiple benign enostoses. It It is a rare inherited benign condition incidentally found on skeletal x-rays. Its importance is predominantly in correct diagnosis so that it is not mistaken for pathology.
Epidemiology
The bone islands of osteopoikilosis develop during childhood and do not regress and therefore are seen in all age groups. There is no gender predilection.
Osteopoikilosis is inherited as an autosomal dominant disorder 1.
Associations
Osteopoikilosis is often found concurrently with osteopathia striata, and melorheostosis, and it is thought by some that they represent a spectrum of the same condition termed mixed sclerosing bone dysplasia. Indeed recent geneticGenetic evidence suggests that these conditions are related to a loss of function mutation of the LEMD3 gene gene 2.
Gunal-Seber-Basaran syndrome: osteopoikilosis with dacryocystitis
mixed sclerosing bone dysplasia: concurrent osteopoikilosis,osteopathia striata
andand melorheostosis8.tendency to keloid formation 7
Clinical presentation
The condition is asymptomatic and does not degenerate into malignancy. Bone strength is normal.
Pathology
Histologically, the bone islands found in osteopoikilosis and in sporadic enostoses are merely patches of dense cortical-like bone complete with haversian canals located within the spongiosa, often just deep to the cortex 7.
A closely related entity is Buschke-Ollendorff syndrome.
Osteopoikilosis is often found coexisting with osteopathia striata, and melorheostosis, and these may represent a spectrum of the same condition, termed mixed sclerosing bone dysplasia.
Genetics
It is now thought that these conditions are related to a loss of function mutation of the LEMD3 gene gene 2.
Radiographic features
Plain radiograph and CT
The bone islands of osteopoikilosis are typically clustered around joints and align themselves parallel to surrounding trabeculae. Thus they are predominantly longitudinal in the areas of well-defined linear trabeculae, while more-or-less spherical where the trabeculations are not as well organised linearly. An example of the former is any of the five major groups of trabeculae seen in the femoral head and neck 8.
Most lesions are found in the appendicular skeleton and pelvis. The axial skeleton is largely spared. It is rare for the skull vault to be involved 6.
The lesions vary in size, usually 5-10 mm, but ranging from only 1-2 mm up to 1-2 cm.
One study suggested that bone islands can be differentiated from sclerotic bone metastases by by their higher attenuation 10, however this has been challenged in biopsy proven lesion analysis 11, and so exclusive use of attenuation values in the assessment of sclerotic bone lesions has been discouraged.
MRI
Appearances on MRI are the same as individual bone islands. Each lesion is small and dark on both T1- and T2-weighted images, as it is composed of mature dense bone 3.
Bone scintigraphy
A bone scan should not demonstrate any increase in uptake, useful if metastatic disease is considered in the differential.
Osteopoikilosis is one of the skeletal “don’t touch” lesions.
History and etymology
The word osteopoikilosis derives from the Ancient Greek words ποικίλος(poikilos) meaning dappled or spotted and οστεον (osteo) meaning bone 9.
Differential diagnosis
When seen throughout multiple bones with characteristic appearances, there is little differential. When only a few lesions are seen on an isolated film, the differential includes:
incidental bone islands (enostoses)
sclerotic metastases(rarely involve epiphyses)
osteoid osteoma: only rarely multiple 4
calcium and phosphate metabolism abnormalities
previous instrumentation/fractures/avascular necrosis
-<p><strong>Osteopoikilosis</strong> is a <a href="/articles/sclerosing-bone-dysplasia-overview">sclerosing bony dysplasia</a> characterised by multiple benign <a href="/articles/enostoses">enostoses</a>. It is a rare inherited benign condition incidentally found on skeletal x-rays. Its importance is predominantly in correct diagnosis so that it is not mistaken for pathology.</p><h4>Epidemiology</h4><p>The bone islands of osteopoikilosis develop during childhood and do not regress and therefore are seen in all age groups. There is no gender predilection.</p><p>Osteopoikilosis is inherited as an <a href="/articles/autosomal-dominant">autosomal dominant</a> disorder <sup>1</sup>.</p><h5>Associations</h5><p>Osteopoikilosis is often found concurrently with <a href="/articles/osteopathia-striata">osteopathia striata</a>, and <a href="/articles/melorheostosis-1">melorheostosis</a>, and it is thought by some that they represent a spectrum of the same condition termed <a href="/articles/mixed-sclerosing-bone-dysplasia">mixed sclerosing bone dysplasia</a>. Indeed recent genetic evidence suggests that these conditions are related to a loss of function mutation of the <em>LEMD3</em> gene <sup>2</sup>.</p><ul>- +<p><strong>Osteopoikilosis</strong> is a <a href="/articles/sclerosing-bone-dysplasia-overview">sclerosing bony dysplasia</a> characterised by multiple benign <a href="/articles/enostoses">enostoses</a>. It is a rare inherited benign condition incidentally found on skeletal x-rays. Its importance is predominantly in correct diagnosis so that it is not mistaken for pathology.</p><h4>Epidemiology</h4><p>The bone islands of osteopoikilosis develop during childhood and do not regress and therefore are seen in all age groups. There is no gender predilection.</p><p>Osteopoikilosis is inherited as an <a href="/articles/autosomal-dominant">autosomal dominant</a> disorder <sup>1</sup>.</p><h5>Associations</h5><p>Osteopoikilosis is often found concurrently with <a href="/articles/osteopathia-striata">osteopathia striata</a>, and <a href="/articles/melorheostosis-1">melorheostosis</a>, and it is thought by some that they represent a spectrum of the same condition termed <a href="/articles/mixed-sclerosing-bone-dysplasia">mixed sclerosing bone dysplasia</a>. Genetic evidence suggests that these conditions are related to a loss of function mutation of the <em>LEMD3</em> gene <sup>2</sup>.</p><ul>
-<li><p><a href="/articles/mixed-sclerosing-bone-dysplasia">mixed sclerosing bone dysplasia</a>: concurrent osteopoikilosis, <a href="/articles/osteopathia-striata">osteopathia striata</a> and <a href="/articles/melorheostosis-1">melorheostosis</a> <sup>8</sup>.</p></li>- +<li><p><a href="/articles/mixed-sclerosing-bone-dysplasia">mixed sclerosing bone dysplasia</a>: concurrent osteopoikilosis, <a href="/articles/osteopathia-striata">osteopathia striata</a> and <a href="/articles/melorheostosis-1">melorheostosis</a> <sup>8</sup>.</p></li>
-</ul><h4>Clinical presentation</h4><p>The condition is asymptomatic and does not <a href="/articles/malignant-transformation">degenerate into malignancy</a>. Bone strength is normal. </p><h4>Pathology</h4><p>Histologically, the bone islands found in osteopoikilosis and in sporadic enostoses are merely patches of dense cortical-like bone complete with haversian canals located within the spongiosa, often just deep to the cortex <sup>7</sup>.</p><p>A closely related entity is <a href="/articles/buschke-ollendorff-syndrome">Buschke-Ollendorff syndrome</a>.</p><p>Osteopoikilosis is often found coexisting with <a href="/articles/osteopathia-striata">osteopathia striata</a>, and <a href="/articles/melorheostosis-1">melorheostosis</a>, and these may represent a spectrum of the same condition, termed <a href="/articles/mixed-sclerosing-bone-dysplasia">mixed sclerosing bone dysplasia</a>.</p><h5>Genetics</h5><p>It is now thought that these conditions are related to a loss of function mutation of the <em>LEMD3</em> gene <sup>2</sup>.</p><h4>Radiographic features</h4><h5>Plain radiograph and CT</h5><p>The bone islands of osteopoikilosis are typically clustered around joints and align themselves parallel to surrounding trabeculae. Thus they are predominantly longitudinal in the areas of well-defined linear trabeculae, while more-or-less spherical where the trabeculations are not as well organised linearly. An example of the former is any of the five major groups of trabeculae seen in the femoral head and neck <sup>8</sup>.</p><p>Most lesions are found in the appendicular skeleton and pelvis. The axial skeleton is largely spared. It is rare for the skull vault to be involved <sup>6</sup>.</p><p>The lesions vary in size, usually 5-10 mm, but ranging from only 1-2 mm up to 1-2 cm.</p><p>One study suggested that bone islands can be differentiated from sclerotic <a href="/articles/sclerotic-bone-metastases" title="Sclerotic bone metastases">bone metastases</a> by their higher attenuation <sup>10</sup>, however this has been challenged in biopsy proven lesion analysis <sup>11</sup>, and so exclusive use of attenuation values in the assessment of sclerotic bone lesions has been discouraged.</p><h5>MRI</h5><p>Appearances on MRI are the same as individual bone islands. Each lesion is small and dark on both T1- and T2-weighted images, as it is composed of mature dense bone <sup>3</sup>.</p><h5>Bone scintigraphy</h5><p>A <a href="/articles/bone-scintigraphy-1">bone scan</a> should not demonstrate any increase in uptake, useful if metastatic disease is considered in the differential.</p><p>Osteopoikilosis is one of the skeletal <a href="/articles/leave-alone-lesions-skeletal">“don’t touch” lesions</a>.</p><h4>History and etymology</h4><p>The word osteopoikilosis derives from the Ancient Greek words ποικίλος (poikilos) meaning dappled or spotted and οστεον (osteo) meaning bone <sup>9</sup>.</p><h4>Differential diagnosis</h4><p>When seen throughout multiple bones with characteristic appearances, there is little differential. When only a few lesions are seen on an isolated film, the differential includes:</p><ul>-<li><p>incidental <a href="/articles/bone-islands">bone islands</a> (enostoses) </p></li>- +</ul><h4>Clinical presentation</h4><p>The condition is asymptomatic and does not <a href="/articles/malignant-transformation">degenerate into malignancy</a>. Bone strength is normal. </p><h4>Pathology</h4><p>Histologically, the bone islands found in osteopoikilosis and in sporadic enostoses are merely patches of dense cortical-like bone complete with haversian canals located within the spongiosa, often just deep to the cortex <sup>7</sup>.</p><p>A closely related entity is <a href="/articles/buschke-ollendorff-syndrome">Buschke-Ollendorff syndrome</a>.</p><p>Osteopoikilosis is often found coexisting with <a href="/articles/osteopathia-striata">osteopathia striata</a>, and <a href="/articles/melorheostosis-1">melorheostosis</a>, and these may represent a spectrum of the same condition, termed <a href="/articles/mixed-sclerosing-bone-dysplasia">mixed sclerosing bone dysplasia</a>.</p><h5>Genetics</h5><p>It is now thought that these conditions are related to a loss of function mutation of the <em>LEMD3</em> gene <sup>2</sup>.</p><h4>Radiographic features</h4><h5>Plain radiograph and CT</h5><p>The bone islands of osteopoikilosis are typically clustered around joints and align themselves parallel to surrounding trabeculae. Thus they are predominantly longitudinal in the areas of well-defined linear trabeculae, while more-or-less spherical where the trabeculations are not as well organised linearly. An example of the former is any of the five major groups of trabeculae seen in the femoral head and neck <sup>8</sup>.</p><p>Most lesions are found in the appendicular skeleton and pelvis. The axial skeleton is largely spared. It is rare for the skull vault to be involved <sup>6</sup>.</p><p>The lesions vary in size, usually 5-10 mm, but ranging from only 1-2 mm up to 1-2 cm.</p><p>One study suggested that bone islands can be differentiated from sclerotic <a href="/articles/sclerotic-bone-metastases" title="Sclerotic bone metastases">bone metastases</a> by their higher attenuation <sup>10</sup>, however this has been challenged in biopsy proven lesion analysis <sup>11</sup>, and so exclusive use of attenuation values in the assessment of sclerotic bone lesions has been discouraged.</p><h5>MRI</h5><p>Appearances on MRI are the same as individual bone islands. Each lesion is small and dark on both T1- and T2-weighted images, as it is composed of mature dense bone <sup>3</sup>.</p><h5>Bone scintigraphy</h5><p>A <a href="/articles/bone-scintigraphy-1">bone scan</a> should not demonstrate any increase in uptake, useful if metastatic disease is considered in the differential.</p><p>Osteopoikilosis is one of the skeletal <a href="/articles/leave-alone-lesions-skeletal">“don’t touch” lesions</a>.</p><h4>History and etymology</h4><p>The word osteopoikilosis derives from the Ancient Greek words ποικίλος (poikilos) meaning dappled or spotted and οστεον (osteo) meaning bone <sup>9</sup>.</p><h4>Differential diagnosis</h4><p>When seen throughout multiple bones with characteristic appearances, there is little differential. When only a few lesions are seen on an isolated film, the differential includes:</p><ul>
- +<li><p>incidental <a href="/articles/bone-islands">bone islands</a> (enostoses) </p></li>
-<li><p><a href="/articles/sclerotic-metastases">sclerotic metastases</a> (rarely involve epiphyses)</p></li>- +<li><p><a href="/articles/sclerotic-metastases">sclerotic metastases</a> (rarely involve epiphyses)</p></li>
References changed:
- 1. Benli I, Akalin S, Boysan E, Mumcu E, Kiş M, Türkoğlu D. Epidemiological, Clinical and Radiological Aspects of Osteopoikilosis. J Bone Joint Surg Br. 1992;74(4):504-6. <a href="https://doi.org/10.1302/0301-620X.74B4.1624505">doi:10.1302/0301-620X.74B4.1624505</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/1624505">Pubmed</a>
- 3. Stacy G, Heck R, Peabody T, Dixon L. Neoplastic and Tumorlike Lesions Detected on MR Imaging of the Knee in Patients with Suspected Internal Derangement: Part I, Intraosseous Entities. AJR Am J Roentgenol. 2002;178(3):589-94. <a href="https://doi.org/10.2214/ajr.178.3.1780589">doi:10.2214/ajr.178.3.1780589</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/11856679">Pubmed</a>
- 5. Maurice M. Reeder. Reeder and Felson’s Gamuts in Radiology. (2003) ISBN: 9780387955889 - <a href="http://books.google.com/books?vid=ISBN9780387955889">Google Books</a>
- 6. Claus-Peter Adler. Bone Diseases. (1999) ISBN: 9783540650614 - <a href="http://books.google.com/books?vid=ISBN9783540650614">Google Books</a>
- 7. Khot R, Sikarwar J, Gupta R, Sharma G. Osteopoikilosis : A Case Report. Indian J Radiol Imaging. 2005;15(4):453. <a href="https://doi.org/10.4103/0971-3026.28771">doi:10.4103/0971-3026.28771</a>
- 8. Ghai S, Sharma R, Ghai S. Mixed Sclerosing Bone Dysplasia--A Case Report with Literature Review. Clin Imaging. 2003;27(3):203-5. <a href="https://doi.org/10.1016/s0899-7071(02)00516-8">doi:10.1016/s0899-7071(02)00516-8</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/12727061">Pubmed</a>
- 9. Morwood, James., Taylor, John, 1955 Apr. 11-. The Pocket Oxford Classical Greek Dictionary. (2002) ISBN: 9780198605126 - <a href="http://books.google.com/books?vid=ISBN9780198605126">Google Books</a>
- 10. Ulano A, Bredella M, Burke P et al. Distinguishing Untreated Osteoblastic Metastases From Enostoses Using CT Attenuation Measurements. AJR Am J Roentgenol. 2016;207(2):362-8. <a href="https://doi.org/10.2214/AJR.15.15559">doi:10.2214/AJR.15.15559</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27101076">Pubmed</a>
- 1. Benli IT, Akalin S, Boysan E et-al. Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br. 1992;74 (4): 504-6. <a href="http://www.jbjs.org.uk/cgi/pmidlookup?view=long&pmid=1624505">J Bone Joint Surg Br (link)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/1624505">Pubmed citation</a><div class="ref_v2"></div>
- 3. Stacy GS, Heck RK, Peabody TD et-al. Neoplastic and tumorlike lesions detected on MR imaging of the knee in patients with suspected internal derangement: Part I, intraosseous entities. AJR Am J Roentgenol. 2002;178 (3): 589-94. <a href="http://www.ajronline.org/cgi/content/full/178/3/589">AJR Am J Roentgenol (full text)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/11856679">Pubmed citation</a><div class="ref_v2"></div>
- 5. Reeder MM, Felson B. Reeder and Felson's gamuts in radiology, comprehensive lists of roentgen differential diagnosis. Springer Verlag. (2003) ISBN:0387955887. <a href="http://books.google.com/books?vid=ISBN0387955887">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/0387955887?ie=UTF8&tag=radiopaediaor-20&linkCode=as2&camp=1789&creative=9325&creativeASIN=0387955887">Find it at Amazon</a><div class="ref_v2"></div>
- 6. Adler C. Bone diseases, macroscopic, histological, and radiological diagnosis of structural changes in the skeleton. Springer Verlag. (2000) ISBN:354065061X. <a href="http://books.google.com/books?vid=ISBN354065061X">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/354065061X?ie=UTF8&tag=radiopaediaor-20&linkCode=as2&camp=1789&creative=9325&creativeASIN=354065061X">Find it at Amazon</a><div class="ref_v2"></div>
- 7. R Khot, JS Sikarwar, RP Gupta, GL Sharma. Osteopoikilosis : A case report. (2005) Indian Journal of Radiology and Imaging. 15 (4): 453. <a href="https://doi.org/10.4103/0971-3026.28771">doi:10.4103/0971-3026.28771</a> <span class="ref_v4"></span>
- 8. Ghai S, Sharma R, Ghai S. Mixed sclerosing bone dysplasia-a case report with literature review. Clin Imaging. 2003;27 (3): 203-5. <a href="http://www.ncbi.nlm.nih.gov/pubmed/12727061">Pubmed citation</a><span class="auto"></span>
- 9. James Morwood, John Taylor. Pocket Oxford Classical Greek Dictionary. (2002) <a href="https://books.google.co.uk/books?vid=ISBN9780198605126">ISBN: 9780198605126</a><span class="ref_v4"></span>
- 10. Ulano A, Bredella M, Burke P et al. Distinguishing Untreated Osteoblastic Metastases From Enostoses Using CT Attenuation Measurements. AJR Am J Roentgenol. 2016;207(2):362-8. <a href="https://doi.org/10.2214/ajr.15.15559">doi:10.2214/ajr.15.15559</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27101076">Pubmed</a>
Unable to process the form. Check for errors and try again.